1. Name of Gene USH1C DNA Sequence 50,522 Name of Protein LMNA la min A/C [ Homo sapiens ( human) ] Amino Acid Sequence 533aa Condition/Disease Protein makes up/Does The protein makes up the matrix and is highly conserved in the evolution Charcot- Marie-Tooth Disease

2. Symptoms and Characteristics Description of Charcot-Marie-Tooth Disease Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands. Difficulty lifting your foot to your ankle Frequent tripping or falling Loss of muscle bulk in legs, ankles and feet

3. Description of Charcot-tooth disease continue…. Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early childhood, but onset may occur anytime from early childhood through late adulthood Who it affects? People with a family history of Charcot-Tooth Disease Quality or Outlook of life No cure, treatment can help to relieve Symptoms and mobility People living with this condition may have Problems performing everyday task like opening cans, typing or picking objects up Not life threating, most people with condition Have the same life expectancy as a person who Doesn’t have the Charcot-Marie-Tooth Disease Leaves deformity in your limbs such as flat feet High foot arches, and curvature of the spine

4. Websites Used http://www.mayoclinic.org/diseases-conditions/charcot-marie- tooth-disease/basics/symptoms/con-20029920 http://www.mayoclinic.org/diseases-conditions/charcot-marie- tooth-disease/basics/symptoms/con-20029920 http://ghr.nlm.nih.gov/gene/ABCC8 http://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C Created By: AJ